A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771181



Internal ID1014635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83017441..83039163hg38UCSC Ensembl
chr17:80975317..80997039hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3821723
hg1921723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641448
Supporting Variants
SamplesHG00634
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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